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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:persistent hyperplastic primary vitreous
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Accession:DOID:0060282 term browser browse the term
Definition:A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development. (DO)
Synonyms:exact_synonym: Persistent Hyaloid Artery;   persistent fetal vasculature syndrome;   persistent hyaloid arteries;   persistent hyaloid vasculature;   persistent hyaloid vasculatures
 primary_id: MESH:D054514
 xref: NCI:C161554;   OMIM:PS221900;   ORDO:91495
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
persistent hyperplastic primary vitreous term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh7 atonal bHLH transcription factor 7 ISS OMIM:221900 | OMIM:611308 MouseDO NCBI chr20:27,082,961...27,083,410
Ensembl chr20:27,082,961...27,083,410
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO RGD PMID:16620915 RGD:8552304 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous ClinVar PMID:25741868 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Pax6 paired box 6 ISO DNA:snp:cds:pN64K (mouse) RGD PMID:19345209 RGD:8551891 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh7 atonal bHLH transcription factor 7 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive
OMIM
ClinVar
PMID:9677055 PMID:11527934 PMID:21441919 PMID:21474777 PMID:22068589 PMID:22645276 NCBI chr20:27,082,961...27,083,410
Ensembl chr20:27,082,961...27,083,410
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive ClinVar PMID:25250762 NCBI chr 4:48,852,823...48,953,240
Ensembl chr 4:48,852,827...48,928,372
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        Eye Abnormalities 357
          persistent hyperplastic primary vitreous 5
            Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 0
            Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          skin disease 2741
            eyelid disease 92
              vitreous disease 21
                persistent hyperplastic primary vitreous 5
                  Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 0
                  Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 2
paths to the root